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chr22:29091856 AG>A

Annotations

GeneCHEK2
TranscriptNM_007194.3
cDNAc.1100delC
Proteinp.T367fs
Functionframeshift del
Localizationexon
hg19chr22:29091856 AG>A
dbSNPrs555607708

Synonyms

TranscriptcDNAProtein
NM_001349956.1c.899delCp.T300fs
NM_145862.2c.1013delCp.T338fs
NM_001005735.1c.1229delCp.T410fs
NM_001257387.1c.437delCp.T146fs

Frequency in gnomAD

GenomeExome
MAX0.00250.0025
AFR0.00060.0003
AMR00.00005958
ASJ0.00660.0016
EAS00
FIN0.00830.0086
NFE0.00250.0025
SAS–0

ClinVar

IDPhenotypeEffect
RCV000509136.1Hereditary cancerNot provided
RCV000507407.1not specifiedPathogenic
RCV000587467.1Li-Fraumeni syndromePathogenic
RCV000615743.1CHEK2-Related Cancer SusceptibilityPathogenic
RCV000115980.9Hereditary cancer-predisposing syndromePathogenic
RCV000591014.1AstrocytomaVUS
RCV000515188.1Pathogenic
RCV000123265.9Familial cancer of breastPathogenic
RCV000210137.1Breast and colorectal cancer, susceptibility toPathogenic
RCV000212447.5not providedPathogenic
RCV000500025.1Breast cancer, susceptibilPathogenic
RCV000413386.1Pathogenic
RCV000488416.1Pathogenic

HGMD

IDPhenotypeEffect
CD993415Li-Fraumeni syndromeDM